Distal myopathiesGene: LRIF1
Comment on list classification: Promoting from red to amber, and there is one case plus some functional data.
Created: 12 Jan 2021, 10:38 p.m. | Last Modified: 12 Jan 2021, 10:38 p.m.
Panel Version: 1.29
Review from Bryony Thompson (Royal Melbourne Hospital) on gene in PanelApp Australia.
A single consanguineous case with a homozygous truncating variant, and D4Z4 repeat of 13 units on a 4qA haplotype (permissive haplotype). DZ4Z hypomethylation and increased DUX expression was present in patient cells. siRNA-mediated depletion of LRIF1L in immortalized myoblasts derepressed the DUX4 locus.
Created: 12 Jan 2021, 10:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Facioscapulohumeral muscular dystrophy
Gene: lrif1 has been classified as Amber List (Moderate Evidence).
gene: LRIF1 was added gene: LRIF1 was added to Distal myopathies. Sources: Literature Mode of inheritance for gene: LRIF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRIF1 were set to 32467133 Phenotypes for gene: LRIF1 were set to Facioscapulohumeral muscular dystrophy Review for gene: LRIF1 was set to AMBER